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Results 11-20 of 25 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2019Combining BH3-mimetics to target both BCL-2 and MCL1 has potent activity in pre-clinical models of acute myeloid leukemiaMoujalled, D.M.; Pomilio, G.; Ghiurau, C.; Ivey, A.; Salmon, J.; Rijal, S.; Macraild, S.; Zhang, L.; Teh, T.C.; Tiong, I.S.; Lan, P.; Chanrion, M.; Claperon, A.; Rocchetti, F.; Zichi, A.; Kraus-Berthier, L.; Wang, Y.; Halilovic, E.; Morris, E.; Colland, F.; et al.
2012Glucokinase links Kruppel-like factor 6 to the regulation of hepatic insulin sensitivity in nonalcoholic fatty liver diseaseBechmann, L.; Gastaldelli, A.; Vetter, D.; Patman, G.; Pascoe, L.; Hannivoort, R.; Lee, U.; Fiel, I.; Munoz, U.; Ciociaro, D.; Lee, Y.; Buzzigoli, E.; Miele, L.; Hui, K.; Bugianesi, E.; Burt, A.; Day, C.; Mari, A.; Agius, L.; Walker, M.; et al.
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.
2015Progesterone receptor modulates ERα action in breast cancerMohammed, H.; Russell, I.; Stark, R.; Rueda, O.; Hickey, T.; Tarulli, G.; Serandour, A.; Birrell, S.; Bruna, A.; Saadi, A.; Menon, S.; Hadfield, J.; Pugh, M.; Raj, G.; Brown, G.; D'Santos, C.; Robinson, J.; Silva, G.; Launchbury, R.; Perou, C.; et al.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.